| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63693160C>G | CA9965638 | RTEL1,RTEL1-TNFRSF6B | n.1616C>G c.2941C>G (p.Arg981Gly) c.2200C>G (p.Arg734Gly) c.2869C>G (p.Arg957Gly) n.2880C>G c.604C>G (p.Arg202Gly) n.2954C>G c.*471C>G (n.*471C>G) n.2351C>G c.748C>G (p.Arg250Gly) n.3696C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63693160C>A | CA9965637 | RTEL1,RTEL1-TNFRSF6B | n.1616C>A c.2941C>A (p.Arg981=) c.2200C>A (p.Arg734=) c.2869C>A (p.Arg957=) n.2880C>A c.604C>A (p.Arg202=) n.2954C>A c.*471C>A (n.*471C>A) n.2351C>A c.748C>A (p.Arg250=) n.3696C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63693160C>T | CA130954 | RTEL1,RTEL1-TNFRSF6B | n.1616C>T c.2941C>T (p.Arg981Trp) c.2200C>T (p.Arg734Trp) c.2869C>T (p.Arg957Trp) n.2880C>T c.604C>T (p.Arg202Trp) n.2954C>T c.*471C>T (n.*471C>T) n.2351C>T c.748C>T (p.Arg250Trp) n.3696C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |